Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia
Leigh syndrome is a neurodegenerative disorder with an incidence of 1 : 40,000 live births. The clinical presentation of LS is highly variable with heterogeneity in the disease-associated symptoms of cerebellar, motor, and extrapyramidal dysfunction and common infections. There is no effective treat...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2021-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2021/5266820 |
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| author | Arta Katkevica Madara Kreile Ieva Grinfelde Gita Taurina Ieva Micule Iveta Dzivite-Krisane Arta Smite-Laguna Ieva Malniece |
| author_facet | Arta Katkevica Madara Kreile Ieva Grinfelde Gita Taurina Ieva Micule Iveta Dzivite-Krisane Arta Smite-Laguna Ieva Malniece |
| author_sort | Arta Katkevica |
| collection | DOAJ |
| description | Leigh syndrome is a neurodegenerative disorder with an incidence of 1 : 40,000 live births. The clinical presentation of LS is highly variable with heterogeneity in the disease-associated symptoms of cerebellar, motor, and extrapyramidal dysfunction and common infections. There is no effective treatment for this condition; as such, the prognosis of this condition is very poor with death occurring within the first few years of life. In this study, we report the first LS case in Latvia with SURF1 pathogenic variants in two siblings. The difficulties encountered establishing a diagnosis for the first proband and the effective prenatal diagnosis for the second offspring that led to termination of the pregnancy are discussed. |
| format | Article |
| id | doaj-art-0a2a163ec95f41babe723e6e2379e8b8 |
| institution | Kabale University |
| issn | 1687-9635 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-0a2a163ec95f41babe723e6e2379e8b82025-02-03T01:11:41ZengWileyCase Reports in Medicine1687-96352021-01-01202110.1155/2021/5266820Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in LatviaArta Katkevica0Madara Kreile1Ieva Grinfelde2Gita Taurina3Ieva Micule4Iveta Dzivite-Krisane5Arta Smite-Laguna6Ieva Malniece7Riga Stradiņš UniversityRiga Stradiņš UniversityChilden’s Clinical University HospitalChilden’s Clinical University HospitalChilden’s Clinical University HospitalRiga Stradiņš UniversityChilden’s Clinical University HospitalChilden’s Clinical University HospitalLeigh syndrome is a neurodegenerative disorder with an incidence of 1 : 40,000 live births. The clinical presentation of LS is highly variable with heterogeneity in the disease-associated symptoms of cerebellar, motor, and extrapyramidal dysfunction and common infections. There is no effective treatment for this condition; as such, the prognosis of this condition is very poor with death occurring within the first few years of life. In this study, we report the first LS case in Latvia with SURF1 pathogenic variants in two siblings. The difficulties encountered establishing a diagnosis for the first proband and the effective prenatal diagnosis for the second offspring that led to termination of the pregnancy are discussed.http://dx.doi.org/10.1155/2021/5266820 |
| spellingShingle | Arta Katkevica Madara Kreile Ieva Grinfelde Gita Taurina Ieva Micule Iveta Dzivite-Krisane Arta Smite-Laguna Ieva Malniece Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia Case Reports in Medicine |
| title | Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia |
| title_full | Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia |
| title_fullStr | Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia |
| title_full_unstemmed | Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia |
| title_short | Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia |
| title_sort | two cases of leigh syndrome in one family diagnostic challenges and clinical management experience in latvia |
| url | http://dx.doi.org/10.1155/2021/5266820 |
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